PRENATAL-DIAGNOSIS OF THE 22Q11 DELETION SYNDROME

A 27 weeks' gestation fetus, evaluated because of polyhydramnios, was found by echocardiography to have an interrupted aortic arch type B. B ecause of the known association between this malformation and DiGeorge syndrome, an amniocentesis was performed. Fluorescence in situ hybrid ization revealed a 22q11 deletion. This is, to our knowledge, the firs t report of prenatal detection of a fetus with 22q11 deletion in the a bsence of a family history. (C) 1997 by John Wiley & Sons, Ltd.